Abstract
PurposeWith this study, we aimed to explore the gene-disease relationship (GDR) evidence for 109 gene-disease pairs and the significance of a large Biodatabank for this classification. MethodsThe Clinical Genome Resource (ClinGen) Clinical Validity Framework for evaluation of GDR was applied. Most of the assessed genes were without a phenotype entry in the Online Mendelian Inheritance in Man (OMIM) database. Our Biodatabank with genetic data from over 670,000 previously tested individuals, in addition to data available in literature and public databases, were used for gene curation. ResultsWe confirmed 61 GDR (Definitive: 4 genes, Strong: 22 genes, Moderate: 35 genes). For 84 of 109 gene-disease pairs, a higher score was reached when using data from our Biodatabank in addition to externally obtainable data. This increased the final level of classification in 21 of the genes. Over 400 patients received a genetic report with clinically relevant variants in these 61 genes. ConclusionOur results demonstrate the importance of careful assessment of gene clinical validity data, along with the use of genetic data repositories. Implementation of the ClinGen Clinical Validity Framework for assessment of GDR is relatively straightforward. We encourage diagnostic laboratories to implement such a system and contribute to closing the knowledge gap in genetic research and diagnostics.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.